Variant report

Variant	rs2313453
Chromosome Location	chr6:160808044-160808045
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:160806034..160808502-chr6:160821618..160823284,2	K562	blood:
2	chr6:160807664..160810302-chr6:160813277..160815268,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1018234	0.80[ASN][1000 genomes]
rs10945670	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1317652	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1510225	0.81[ASN][1000 genomes]
rs1510229	0.81[ASN][1000 genomes]
rs1605963	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1605964	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2136676	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2175251	0.81[ASN][1000 genomes]
rs2221750	0.90[AFR][1000 genomes]
rs2504937	0.98[ASN][1000 genomes]
rs2665357	0.86[EUR][1000 genomes]
rs2872317	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3105748	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3105749	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3105752	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3123633	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3123634	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3127574	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs316244	0.80[ASN][1000 genomes]
rs394352	0.81[ASN][1000 genomes]
rs416879	0.85[EUR][1000 genomes]
rs420038	0.81[ASN][1000 genomes]
rs4235926	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs440962	0.81[ASN][1000 genomes]
rs446926	0.81[ASN][1000 genomes]
rs4709425	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709426	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs474513	0.85[EUR][1000 genomes]
rs486339	0.85[EUR][1000 genomes]
rs486359	0.85[EUR][1000 genomes]
rs487060	0.84[EUR][1000 genomes]
rs487152	0.85[EUR][1000 genomes]
rs501470	0.85[EUR][1000 genomes]
rs505870	0.85[EUR][1000 genomes]
rs506823	0.85[EUR][1000 genomes]
rs509707	0.85[EUR][1000 genomes]
rs518295	0.86[EUR][1000 genomes]
rs519118	0.87[EUR][1000 genomes]
rs539298	0.85[EUR][1000 genomes]
rs539958	0.85[EUR][1000 genomes]
rs541091	0.82[EUR][1000 genomes]
rs543159	0.85[EUR][1000 genomes]
rs555754	0.84[EUR][1000 genomes]
rs581556	0.84[EUR][1000 genomes]
rs59777231	0.81[AFR][1000 genomes]
rs609562	0.85[EUR][1000 genomes]
rs624319	0.84[EUR][1000 genomes]
rs637614	0.85[EUR][1000 genomes]
rs639426	0.85[EUR][1000 genomes]
rs641990	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs668871	0.84[EUR][1000 genomes]
rs673736	0.87[EUR][1000 genomes]
rs675162	0.87[EUR][1000 genomes]
rs6905958	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6923921	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs695174	0.86[EUR][1000 genomes]
rs7745775	0.90[AFR][1000 genomes]
rs884742	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9346816	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9364552	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758089	chr6:160372244-161234665	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2759484	chr6:160372244-161234665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv35098	chr6:160422589-161070870	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv2757197	chr6:160432331-161070870	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv818463	chr6:160435569-161025547	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1030746	chr6:160592321-160867031	Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv538493	chr6:160592321-160867031	Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1030171	chr6:160648469-161091864	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv886809	chr6:160670494-160979275	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv886810	chr6:160700769-160897872	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv886811	chr6:160700769-161070990	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv886812	chr6:160706661-161024848	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160805400-160809400	Enhancers	Stomach Smooth Muscle	stomach
2	chr6:160806000-160809200	Enhancers	Rectal Smooth Muscle	rectum
3	chr6:160806400-160808800	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr6:160806400-160809200	Enhancers	Colon Smooth Muscle	Colon
5	chr6:160806600-160812400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:160806800-160809000	Enhancers	Stomach Mucosa	stomach
7	chr6:160806800-160809200	Enhancers	Adipose Nuclei	Adipose
8	chr6:160807000-160809200	Enhancers	Esophagus	oesophagus
9	chr6:160807000-160810200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:160807000-160810800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:160807200-160808200	Enhancers	Liver	Liver
12	chr6:160807400-160808600	Enhancers	HepG2	liver
13	chr6:160807400-160812400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:160807600-160808200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:160807600-160808200	Enhancers	Psoas Muscle	Psoas
16	chr6:160807600-160808200	Flanking Active TSS	A549	lung
17	chr6:160807600-160808200	Enhancers	NHEK	skin
18	chr6:160807600-160808400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:160807600-160808400	Enhancers	Aorta	Aorta
20	chr6:160807600-160808400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr6:160807600-160808600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:160807600-160808600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr6:160807600-160808600	Enhancers	Gastric	stomach
24	chr6:160807600-160808600	Enhancers	Left Ventricle	heart
25	chr6:160807600-160808600	Enhancers	Pancreas	Pancrea
26	chr6:160807600-160809000	Enhancers	Fetal Muscle Leg	muscle
27	chr6:160807600-160809200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr6:160807600-160809200	Enhancers	Fetal Muscle Trunk	muscle
29	chr6:160807600-160809200	Enhancers	Right Atrium	heart
30	chr6:160807600-160809200	Enhancers	NHDF-Ad	bronchial
31	chr6:160807600-160810800	Enhancers	Ovary	ovary
32	chr6:160807600-160811200	Enhancers	HMEC	breast
33	chr6:160807600-160813400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:160807800-160808200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:160807800-160808200	Enhancers	Lung	lung
36	chr6:160807800-160808200	Enhancers	Right Ventricle	heart
37	chr6:160807800-160808400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:160807800-160808400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:160807800-160808400	Enhancers	Placenta Amnion	Placenta Amnion
40	chr6:160807800-160808400	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr6:160807800-160808400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr6:160807800-160808600	Enhancers	Duodenum Mucosa	Duodenum
43	chr6:160807800-160808800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:160807800-160810000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:160807800-160812800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr6:160808000-160808200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:160808000-160808400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr6:160808000-160808400	Enhancers	Placenta	Placenta
49	chr6:160808000-160808400	Flanking Active TSS	Hela-S3	cervix

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